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Leber hereditary optic neuropathy

Gene: MT-ND1

Green List (high evidence)
MT-ND1 (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)
EnsemblGeneIds (GRCh38): ENSG00000198888
EnsemblGeneIds (GRCh37): ENSG00000198888
OMIM: 516000, Gene2Phenotype
MT-ND1 is in 11 panels

2 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Mitochondrial - cannot be tested in panel with nuclear genes
Created: 19 Mar 2019, 3:33 p.m.

Mode of inheritance
MITOCHONDRIAL

Phenotypes
Optic neuropathy and nystagmus; External ophthalmoplegia; Leber's hereditary optic neuropathy

Publications

Created: 19 Mar 2019, 3:33 p.m.

Panel version: Imported from Optic neuropathy panel version 1.28

Ellen McDonagh (Genomics England Curator)

Comment on list classification: More than 3 unrelated cases reported.
Created: 7 Sep 2016, 8:53 a.m.
Created: 7 Sep 2016, 8:53 a.m.

Panel version: Imported from Optic neuropathy panel version 0.34

History Filter Activity

18 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing was removed from gene: MT-ND1.

12 Sep 2023, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag limit of detection for heteroplasmic variants is not validated for WGS testing tag was added to gene: MT-ND1.

9 May 2022, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag gene-checked tag was added to gene: MT-ND1.

16 Sep 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: MT-ND1 was added gene: MT-ND1 was added to Leber hereditary optic neuropathy. Sources: Expert Review Green,Expert List Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Publications for gene: MT-ND1 were set to 26448634; 24884847; 27449621; 23665487; 24800637; 27177320; 20301353 Phenotypes for gene: MT-ND1 were set to Leber's hereditary optic neuropathy; External ophthalmoplegia; Optic neuropathy and nystagmus